Varaico: Literature-Extracted Genetic Variants

SLC3A2

1,928 papers

RefSeq Summary

This gene is a member of the solute carrier family and encodes a cell surface, transmembrane protein. The protein exists as the heavy chain of a heterodimer, covalently bound through di-sulfide bonds ...

Pfam Domains

SLC3A2_Naa 145–225UCSCSolute carrier family 3 member 2 N-terminus

Alpha-amylaseaa 229–332UCSCAlpha amylase, catalytic domain

Gene Aliases

HGNC Name

solute carrier family 3 member 2

HGNC Previous Symbol

MDU1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001013251.3

p.P19H

c.56C>A

Surrounding Variants

2 papers

NM_001013251.3

p.P19L

c.56C>T

1 paper

NM_001013251.3

p.P19P

c.57C>A

1 paper

NM_001013251.3

p.P19insFs

c.56_57ins13

2 papers

NM_001013251.3

p.E18E

c.54G>A

1 paper

NM_001013251.3

p.E20G

c.59A>G

2 papers

NM_001013251.3

p.E18V

c.53A>T

1 paper

NM_001013251.3

p.E20D

c.60G>C

1 paper

NM_001013251.3

p.E20D

c.60G>T

1 paper

NM_001013251.3

p.K21insFs

c.61_62insCT

1 paper

NM_001013251.3

p.K21Q

c.61A>C

1 paper

NM_001013251.3

p.L17L

c.51A>G

1 paper

NM_001013251.3

p.K21*

c.61A>T